ClinVar Miner

Submissions for variant NM_000482.3(APOA4):c.748G>A (p.Glu250Lys)

gnomAD frequency: 0.00029  dbSNP: rs121909576
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003556049 SCV004280456 benign not provided 2023-05-23 criteria provided, single submitter clinical testing
OMIM RCV000019496 SCV000039793 other APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*3 2016-04-20 no assertion criteria provided literature only

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